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European Journal of Human Genetics : EJHG|November 4, 2004
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patientsChristina Brahe, Tiziana Vitali, Francesco D Tiziano, et al.
Epilepsia|August 16, 2003
Electroclinical patterns and evolution of epilepsy in the 4p- syndromeDomenica Battaglia, Giuseppe Zampino, Marcella Zollino, et al.
Eye (London, England)|August 5, 2026
Real-world comparative effectiveness of faricimab versus aflibercept 2 mg in treatment-naïve exudative neovascular AMD patients treated with a treat-and-extend regimenXuenan Zhuang, Lorena Ulla, Claudio Foti, et al.
Human Mutation|July 29, 2011
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian familyFilomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, et al.
European Journal of Ophthalmology|September 21, 2019
Vitreomacular interface alterations following peripheral laser retinopexy: Interface changes after laserGian Marco Tosi, Tommaso Bacci, Antonio Tarantello, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 7, 2006
Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patientsAnna Modoni, Maria Fiorella Contarino, Anna Rita Bentivoglio, et al.
Genes|March 1, 2020
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome FamiliesElisabetta Tabolacci, Roberta Pietrobono, Giulia Maneri, et al.
Nanoscale|January 31, 2024
Photochemical synthesis, characterization, and electrochemical sensing properties of CD-AuNP nanohybridsGiuseppe Nocito, Rayhane Zribi, Meryam Chelly, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 6, 2011
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeSarah B Pierce, Karen M Chisholm, Eric D Lynch, et al.
Investigacion Clinica|March 22, 2013
[Clinical and molecular study of the Noonan syndrome]Francisco Cammarata-Scalisi, Giovanni Neri, Maria Grazia Pomponi, et al.
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